AMN — 656 ClinVar variants

All ClinVar germline AMN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 157 flagged for review →

32 Pathogenic · 2 Pathogenic/Likely pathogenic · 38 Likely pathogenic · 7 Conflicting · 21 Benign · 13 Benign/Likely benign · 365 Likely benign · 178 Uncertain significance

Full AMN gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 157

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

AMN p.Thr41Ile Likely pathogenic Multiple submitters
Imerslund-Grasbeck syndrome type 2

Predictors agree, ClinVar conflicts 5

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

AMN p.Ala330Glu Conflicting Single submitter
Imerslund-Grasbeck syndrome type 2
AMN p.Gly448Glu Conflicting Single submitter
Inborn genetic diseases
AMN p.His285Gln Conflicting Single submitter
Imerslund-Grasbeck syndrome
AMN p.Ser298Pro Conflicting Single submitter
Inborn genetic diseases
AMN p.Thr414Ala Conflicting Single submitter
Imerslund-Grasbeck syndrome type 2

Predictors lean, ClinVar uncertain 81

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

AMN p.Ala47Val Uncertain significance Multiple submitters
Imerslund-Grasbeck syndrome
AMN p.Arg424Gly Uncertain significance Multiple submitters
Inborn genetic diseases
AMN p.Asp114Asn Uncertain significance Multiple submitters
Imerslund-Grasbeck syndrome type 2
AMN p.Asp122Gly Uncertain significance Multiple submitters
Imerslund-Grasbeck syndrome type 2
AMN p.Gln288His Uncertain significance Multiple submitters
Inborn genetic diseases
AMN p.Glu395Lys Uncertain significance Multiple submitters
Imerslund-Grasbeck syndrome type 2
AMN p.Glu450Gly Uncertain significance Multiple submitters
Imerslund-Grasbeck syndrome type 2
AMN p.Gly280Ala Uncertain significance Multiple submitters
Imerslund-Grasbeck syndrome type 2
AMN p.Gly97Asp Uncertain significance Multiple submitters
Imerslund-Grasbeck syndrome
AMN p.His352Gln Uncertain significance Multiple submitters
Imerslund-Grasbeck syndrome
AMN p.Phe150Leu Uncertain significance Multiple submitters
Imerslund-Grasbeck syndrome type 2
AMN p.Phe50Ser Uncertain significance Multiple submitters
Imerslund-Grasbeck syndrome type 2
AMN p.Ser147Thr Uncertain significance Multiple submitters
Imerslund-Grasbeck syndrome type 2
AMN p.Ser167Leu Uncertain significance Multiple submitters
Imerslund-Grasbeck syndrome
AMN p.Ser37Asn Uncertain significance Multiple submitters
Imerslund-Grasbeck syndrome
AMN p.Trp36Cys Uncertain significance Multiple submitters
Imerslund-Grasbeck syndrome type 2
AMN p.Val161Leu Uncertain significance Multiple submitters
Imerslund-Grasbeck syndrome type 2
AMN p.Val375Leu Uncertain significance Multiple submitters
Imerslund-Grasbeck syndrome type 2
AMN p.Val3Leu Uncertain significance Multiple submitters
Imerslund-Grasbeck syndrome type 2
AMN p.Val90Met Uncertain significance Multiple submitters
Inborn genetic diseases
AMN p.Ala124Val Uncertain significance Single submitter
Imerslund-Grasbeck syndrome type 2
AMN p.Ala158Val Uncertain significance Single submitter
Imerslund-Grasbeck syndrome type 2
AMN p.Ala15Ser Uncertain significance Single submitter
Imerslund-Grasbeck syndrome
AMN p.Ala197Val Uncertain significance Single submitter
Inborn genetic diseases
AMN p.Ala216Thr Uncertain significance Single submitter
Inborn genetic diseases
AMN p.Ala224Glu Uncertain significance Single submitter
Inborn genetic diseases
AMN p.Ala238Pro Uncertain significance Single submitter
Inborn genetic diseases
AMN p.Ala264Thr Uncertain significance Single submitter
Imerslund-Grasbeck syndrome
AMN p.Ala333Gly Uncertain significance Single submitter
Imerslund-Grasbeck syndrome
AMN p.Ala358Gly Uncertain significance Single submitter
Inborn genetic diseases
AMN p.Ala359Gly Uncertain significance Single submitter
Inborn genetic diseases
AMN p.Ala372Val Uncertain significance Single submitter
Inborn genetic diseases
AMN p.Ala398Ser Uncertain significance Single submitter
Imerslund-Grasbeck syndrome
AMN p.Ala98Pro Uncertain significance Single submitter
Inborn genetic diseases
AMN p.Arg109Cys Uncertain significance Single submitter
Imerslund-Grasbeck syndrome type 2
AMN p.Arg138Ser Uncertain significance Single submitter
Inborn genetic diseases
AMN p.Arg164His Uncertain significance Single submitter
Inborn genetic diseases
AMN p.Arg186Pro Uncertain significance Single submitter
Imerslund-Grasbeck syndrome type 2
AMN p.Arg186Ser Uncertain significance Single submitter
Imerslund-Grasbeck syndrome type 2
AMN p.Arg407Cys Uncertain significance Single submitter
Imerslund-Grasbeck syndrome
AMN p.Asn35Lys Uncertain significance Single submitter
Inborn genetic diseases
AMN p.Asn39Ile Uncertain significance Single submitter
Inborn genetic diseases
AMN p.Asn408Asp Uncertain significance Single submitter
Imerslund-Grasbeck syndrome type 2
AMN p.Asp106Asn Uncertain significance Single submitter
Imerslund-Grasbeck syndrome
AMN p.Asp31Asn Uncertain significance Single submitter
Imerslund-Grasbeck syndrome type 2
AMN p.Asp31Glu Uncertain significance Single submitter
Imerslund-Grasbeck syndrome
AMN p.Asp331Glu Uncertain significance Single submitter
Imerslund-Grasbeck syndrome type 2
AMN p.Cys250Trp Uncertain significance Single submitter
Inborn genetic diseases
AMN p.Cys43Ser Uncertain significance Single submitter
Imerslund-Grasbeck syndrome
AMN p.Gln228Glu Uncertain significance Single submitter
Imerslund-Grasbeck syndrome
AMN p.Glu317Gln Uncertain significance Single submitter
Imerslund-Grasbeck syndrome type 2
AMN p.Glu62Lys Uncertain significance Single submitter
Imerslund-Grasbeck syndrome type 2
AMN p.Gly201Asp Uncertain significance Single submitter
Inborn genetic diseases
AMN p.Gly2Asp Uncertain significance Single submitter
Imerslund-Grasbeck syndrome
AMN p.Gly2Ser Uncertain significance Single submitter
Imerslund-Grasbeck syndrome type 2
AMN p.Gly340Asp Uncertain significance Single submitter
Inborn genetic diseases
AMN p.Gly355Asp Uncertain significance Single submitter
Imerslund-Grasbeck syndrome
AMN p.Gly84Arg Uncertain significance Single submitter
Imerslund-Grasbeck syndrome
AMN p.His285Leu Uncertain significance Single submitter
Imerslund-Grasbeck syndrome
AMN p.Leu179Pro Uncertain significance Single submitter
Inborn genetic diseases
AMN p.Leu275Val Uncertain significance Single submitter
Imerslund-Grasbeck syndrome type 2
AMN p.Leu279Met Uncertain significance Single submitter
Imerslund-Grasbeck syndrome type 2
AMN p.Leu324Pro Uncertain significance Single submitter
Imerslund-Grasbeck syndrome type 2
AMN p.Leu339Phe Uncertain significance Single submitter
Inborn genetic diseases
AMN p.Leu427Val Uncertain significance Single submitter
Inborn genetic diseases
AMN p.Leu445Val Uncertain significance Single submitter
Imerslund-Grasbeck syndrome type 2
AMN p.Lys430Gln Uncertain significance Single submitter
Imerslund-Grasbeck syndrome
AMN p.Met346Leu Uncertain significance Single submitter
Imerslund-Grasbeck syndrome
AMN p.Met69Ile Uncertain significance Single submitter
Imerslund-Grasbeck syndrome type 2
AMN p.Pro156Arg Uncertain significance Single submitter
Inborn genetic diseases
AMN p.Pro72Leu Uncertain significance Single submitter
Imerslund-Grasbeck syndrome type 2
AMN p.Ser185Phe Uncertain significance Single submitter
Imerslund-Grasbeck syndrome type 2
AMN p.Ser297Leu Uncertain significance Single submitter
Imerslund-Grasbeck syndrome type 2
AMN p.Thr305Met Uncertain significance Single submitter
Imerslund-Grasbeck syndrome
AMN p.Thr414Ser Uncertain significance Single submitter
Inborn genetic diseases
AMN p.Trp112Cys Uncertain significance Single submitter
Inborn genetic diseases
AMN p.Val152Met Uncertain significance Single submitter
Imerslund-Grasbeck syndrome
AMN p.Val212Phe Uncertain significance Single submitter
Imerslund-Grasbeck syndrome type 2
AMN p.Val25Ala Uncertain significance Single submitter
Imerslund-Grasbeck syndrome type 2
AMN p.Val378Leu Uncertain significance Single submitter
Inborn genetic diseases
AMN p.Val78Ala Uncertain significance Single submitter
Inborn genetic diseases

Predictors split 70

The independent predictors disagree with each other — read with care.

AMN p.Ala238Thr Uncertain significance Multiple submitters
Inborn genetic diseases
AMN p.Ala400Val Uncertain significance Multiple submitters
Imerslund-Grasbeck syndrome
AMN p.Ala433Val Uncertain significance Multiple submitters
Imerslund-Grasbeck syndrome type 2
AMN p.Ala44Thr Uncertain significance Multiple submitters
Inborn genetic diseases
AMN p.Arg119Leu Uncertain significance Multiple submitters
Imerslund-Grasbeck syndrome type 2
AMN p.Arg134Gly Uncertain significance Multiple submitters
Imerslund-Grasbeck syndrome
AMN p.Arg244Trp Uncertain significance Multiple submitters
Imerslund-Grasbeck syndrome type 2
AMN p.Arg269Trp Uncertain significance Multiple submitters
Imerslund-Grasbeck syndrome type 2
AMN p.Arg271Trp Uncertain significance Multiple submitters
Inborn genetic diseases
AMN p.Arg40Gln Uncertain significance Multiple submitters
Imerslund-Grasbeck syndrome type 2
AMN p.Asp176Asn Uncertain significance Multiple submitters
Imerslund-Grasbeck syndrome type 2
AMN p.Asp178Asn Uncertain significance Multiple submitters
Imerslund-Grasbeck syndrome type 2
AMN p.Leu382Pro Uncertain significance Multiple submitters
Imerslund-Grasbeck syndrome type 2
AMN p.Leu404Phe Uncertain significance Multiple submitters
Imerslund-Grasbeck syndrome type 2
AMN p.Met69Thr Uncertain significance Multiple submitters
Imerslund-Grasbeck syndrome type 2
AMN p.Pro444Ser Uncertain significance Multiple submitters
Inborn genetic diseases
AMN p.Ser21Phe Uncertain significance Multiple submitters
Imerslund-Grasbeck syndrome type 2
AMN p.Ser437Asn Uncertain significance Multiple submitters
Inborn genetic diseases
AMN p.Val310Met Uncertain significance Multiple submitters
Imerslund-Grasbeck syndrome type 2
AMN p.Val442Ile Uncertain significance Multiple submitters
Inborn genetic diseases
AMN p.Val66Ala Uncertain significance Multiple submitters
Imerslund-Grasbeck syndrome
AMN p.Ala102Asp Uncertain significance Single submitter
Inborn genetic diseases
AMN p.Ala132Val Uncertain significance Single submitter
Imerslund-Grasbeck syndrome
AMN p.Ala19Val Uncertain significance Single submitter
Imerslund-Grasbeck syndrome
AMN p.Ala325Thr Uncertain significance Single submitter
Inborn genetic diseases
AMN p.Ala330Thr Uncertain significance Single submitter
Inborn genetic diseases
AMN p.Ala367Thr Uncertain significance Single submitter
Inborn genetic diseases
AMN p.Ala432Val Uncertain significance Single submitter
Imerslund-Grasbeck syndrome type 2
AMN p.Ala451Val Uncertain significance Single submitter
Inborn genetic diseases
AMN p.Ala52Gly Uncertain significance Single submitter
Imerslund-Grasbeck syndrome type 2
AMN p.Ala98Val Uncertain significance Single submitter
Inborn genetic diseases
AMN p.Arg171Pro Uncertain significance Single submitter
Inborn genetic diseases
AMN p.Arg269Leu Uncertain significance Single submitter
Imerslund-Grasbeck syndrome
AMN p.Arg299Trp Uncertain significance Single submitter
Imerslund-Grasbeck syndrome type 2
AMN p.Arg323Leu Uncertain significance Single submitter
Inborn genetic diseases
AMN p.Arg323Pro Uncertain significance Single submitter
Inborn genetic diseases
AMN p.Arg323Trp Uncertain significance Single submitter
Imerslund-Grasbeck syndrome
AMN p.Arg384Cys Uncertain significance Single submitter
Imerslund-Grasbeck syndrome type 2
AMN p.Arg385Cys Uncertain significance Single submitter
Imerslund-Grasbeck syndrome type 2
AMN p.Asp412Asn Uncertain significance Single submitter
Inborn genetic diseases
AMN p.Cys211Arg Uncertain significance Single submitter
Inborn genetic diseases
AMN p.Glu177Asp Uncertain significance Single submitter
Imerslund-Grasbeck syndrome type 2
AMN p.Glu313Gly Uncertain significance Single submitter
Imerslund-Grasbeck syndrome type 2
AMN p.Glu343Lys Uncertain significance Single submitter
Inborn genetic diseases
AMN p.Gly155Arg Uncertain significance Single submitter
Imerslund-Grasbeck syndrome
AMN p.Gly155Asp Uncertain significance Single submitter
Inborn genetic diseases
AMN p.Gly170Asp Uncertain significance Single submitter
Inborn genetic diseases
AMN p.Gly232Val Uncertain significance Single submitter
Inborn genetic diseases
AMN p.Gly360Glu Uncertain significance Single submitter
Imerslund-Grasbeck syndrome type 2
AMN p.Gly45Ser Uncertain significance Single submitter
Inborn genetic diseases
AMN p.Gly46Ser Uncertain significance Single submitter
Imerslund-Grasbeck syndrome type 2
AMN p.His113Gln Uncertain significance Single submitter
Inborn genetic diseases
AMN p.Leu179Met Uncertain significance Single submitter
Imerslund-Grasbeck syndrome type 2
AMN p.Leu227His Uncertain significance Single submitter
Imerslund-Grasbeck syndrome type 2
AMN p.Leu252Phe Uncertain significance Single submitter
Imerslund-Grasbeck syndrome
AMN p.Leu267Gln Uncertain significance Single submitter
Imerslund-Grasbeck syndrome type 2
AMN p.Leu281Pro Uncertain significance Single submitter
Inborn genetic diseases
AMN p.Leu371Pro Uncertain significance Single submitter
Inborn genetic diseases
AMN p.Leu383Pro Uncertain significance Single submitter
Imerslund-Grasbeck syndrome
AMN p.Leu389Ile Uncertain significance Single submitter
Imerslund-Grasbeck syndrome
AMN p.Pro229Thr Uncertain significance Single submitter
Imerslund-Grasbeck syndrome type 2
AMN p.Pro235Ala Uncertain significance Single submitter
Inborn genetic diseases
AMN p.Pro381Leu Uncertain significance Single submitter
Imerslund-Grasbeck syndrome type 2
AMN p.Pro381Ser Uncertain significance Single submitter
Imerslund-Grasbeck syndrome
AMN p.Pro42Leu Uncertain significance Single submitter
Imerslund-Grasbeck syndrome type 2
AMN p.Ser439Ile Uncertain significance Single submitter
Inborn genetic diseases
AMN p.Val142Ile Uncertain significance Single submitter
Inborn genetic diseases
AMN p.Val152Leu Uncertain significance Single submitter
Inborn genetic diseases
AMN p.Val200Met Uncertain significance Single submitter
Inborn genetic diseases
AMN p.Val25Asp Uncertain significance Single submitter
Inborn genetic diseases

All AMN variants

Pathogenic 32

c.1006+34_1007-31del Multiple submitters Imerslund-Grasbeck syndrome
c.208-2A>G Multiple submitters Imerslund-Grasbeck syndrome type 2
p.Gly5fs Multiple submitters Imerslund-Grasbeck syndrome type 2
p.Ala372fs Single submitter Imerslund-Grasbeck syndrome
p.Arg323fs Single submitter Imerslund-Grasbeck syndrome
p.Arg388fs Single submitter Imerslund-Grasbeck syndrome
p.Asn27fs Single submitter Imerslund-Grasbeck syndrome
p.Asp108fs Single submitter vitamin B12 deficiency
p.Cys137Ter Single submitter Imerslund-Grasbeck syndrome
p.Cys223Ter Single submitter Imerslund-Grasbeck syndrome
p.Gln12fs Single submitter Imerslund-Grasbeck syndrome
p.Gln12Ter Single submitter Imerslund-Grasbeck syndrome
p.Gln228Ter Single submitter Imerslund-Grasbeck syndrome type 2
p.Gln236fs Single submitter Imerslund-Grasbeck syndrome
p.Gln248Ter Single submitter Imerslund-Grasbeck syndrome
p.Gln288Ter Single submitter Imerslund-Grasbeck syndrome
p.Glu100fs Single submitter Imerslund-Grasbeck syndrome type 2
p.Gly196fs Single submitter Imerslund-Grasbeck syndrome
p.Leu179fs Single submitter Imerslund-Grasbeck syndrome
p.Leu419fs Single submitter Imerslund-Grasbeck syndrome
p.Phe182fs Single submitter Imerslund-Grasbeck syndrome
p.Phe265fs Single submitter Imerslund-Grasbeck syndrome
p.Ser149fs Single submitter Imerslund-Grasbeck syndrome
p.Ser165fs Single submitter Imerslund-Grasbeck syndrome type 2
p.Ser297Ter Single submitter Imerslund-Grasbeck syndrome
p.Ser57Ter Single submitter Imerslund-Grasbeck syndrome
p.Trp221Ter Single submitter Imerslund-Grasbeck syndrome
p.Val20fs Single submitter Imerslund-Grasbeck syndrome
p.Val25fs Single submitter Imerslund-Grasbeck syndrome
c.1006+11_1008del No assertion criteria Imerslund-Grasbeck syndrome type 2
p.Glu348fs No assertion criteria Imerslund-Grasbeck syndrome type 2
p.Met69Lys No assertion criteria Imerslund-Grasbeck syndrome type 2

Pathogenic/Likely pathogenic 2

c.208-1G>C Multiple submitters Imerslund-Grasbeck syndrome
p.Trp391Ter Multiple submitters AMN-related disorder

Likely pathogenic 38

c.138_162+20del Multiple submitters Imerslund-Grasbeck syndrome type 2
c.208-13_211del Multiple submitters Imerslund-Grasbeck syndrome
c.296-1G>A Multiple submitters Imerslund-Grasbeck syndrome
c.44-1G>A Multiple submitters Imerslund-Grasbeck syndrome
c.760+1G>A Multiple submitters Imerslund-Grasbeck syndrome
c.844-1G>C Multiple submitters Imerslund-Grasbeck syndrome type 2
p.Ser349fs Multiple submitters Imerslund-Grasbeck syndrome type 2
p.Thr41Ile Multiple submitters Imerslund-Grasbeck syndrome type 2 ⚠
c.1169+2T>C Single submitter Imerslund-Grasbeck syndrome
c.1170-1G>C Single submitter Imerslund-Grasbeck syndrome
c.207+1G>A Single submitter Imerslund-Grasbeck syndrome
c.295+1G>A Single submitter Imerslund-Grasbeck syndrome type 2
c.43+5G>A Single submitter Imerslund-Grasbeck syndrome type 2
c.44-2A>T Single submitter Imerslund-Grasbeck syndrome
c.513+2del Single submitter Imerslund-Grasbeck syndrome
c.513+2T>C Single submitter Imerslund-Grasbeck syndrome
c.514-34G>A Single submitter Imerslund-Grasbeck syndrome
c.651+1G>T Single submitter Imerslund-Grasbeck syndrome
c.652-2A>G Single submitter Imerslund-Grasbeck syndrome
c.844-14_845del Single submitter Imerslund-Grasbeck syndrome
p.Gln246Ter Single submitter Imerslund-Grasbeck syndrome type 2
p.Glu76fs Single submitter Imerslund-Grasbeck syndrome type 2
p.Gly170fs Single submitter Imerslund-Grasbeck syndrome type 2
p.His438fs Single submitter Imerslund-Grasbeck syndrome
p.Phe104fs Single submitter Imerslund-Grasbeck syndrome type 2
p.Pro381fs Single submitter Imerslund-Grasbeck syndrome type 2
p.Pro42fs Single submitter Imerslund-Grasbeck syndrome type 2
p.Ser57fs Single submitter
p.Trp24Ter Single submitter Imerslund-Grasbeck syndrome type 2
c.1006+16_1006+30del No assertion criteria Imerslund-Grasbeck syndrome
c.295+1del No assertion criteria Imerslund-Grasbeck syndrome
c.43+1G>T No assertion criteria Imerslund-Grasbeck syndrome
p.Ala327fs No assertion criteria Imerslund-Grasbeck syndrome
p.Cys234Phe No assertion criteria Imerslund-Grasbeck syndrome
p.Gln228_Leu243del No assertion criteria Imerslund-Grasbeck syndrome
p.Gly157fs No assertion criteria Imerslund-Grasbeck syndrome
p.Gly254Glu No assertion criteria Imerslund-Grasbeck syndrome
p.Leu339fs No assertion criteria Imerslund-Grasbeck syndrome

Conflicting classifications of pathogenicity 7

c.1170-6C>T Single submitter Imerslund-Grasbeck syndrome
c.163-6C>T Single submitter Inborn genetic diseases
p.Ala330Glu Single submitter Imerslund-Grasbeck syndrome type 2 ⚠
p.Gly448Glu Single submitter Inborn genetic diseases ⚠
p.His285Gln Single submitter Imerslund-Grasbeck syndrome ⚠
p.Ser298Pro Single submitter Inborn genetic diseases ⚠
p.Thr414Ala Single submitter Imerslund-Grasbeck syndrome type 2 ⚠

Benign 21

c.1170-37C>G Multiple submitters Imerslund-Grasbeck syndrome
c.207+157G>C Multiple submitters
c.207+67T>C Multiple submitters
c.296-9C>T Multiple submitters Imerslund-Grasbeck syndrome
c.43+146C>T Multiple submitters
c.514-34G>C Multiple submitters Imerslund-Grasbeck syndrome
c.843+12G>A Multiple submitters Imerslund-Grasbeck syndrome type 2
c.-23G>C Multiple submitters
c.-27T>C Multiple submitters
c.*133T>C Multiple submitters
c.*38G>C Multiple submitters
p.Gly448_Ala449dup Multiple submitters Imerslund-Grasbeck syndrome type 2
p.Ser107= Multiple submitters Imerslund-Grasbeck syndrome
c.1007-39C>T Single submitter Imerslund-Grasbeck syndrome
c.1257+10C>T Single submitter Imerslund-Grasbeck syndrome
c.1257+20del Single submitter Imerslund-Grasbeck syndrome
c.1257+9del Single submitter Imerslund-Grasbeck syndrome
c.1257+9dup Single submitter Imerslund-Grasbeck syndrome
c.163-11T>C Single submitter Imerslund-Grasbeck syndrome
c.760+12del Single submitter Imerslund-Grasbeck syndrome
c.843+11C>T Single submitter Imerslund-Grasbeck syndrome

Benign/Likely benign 13

c.1169+11C>G Multiple submitters Imerslund-Grasbeck syndrome type 2
c.1257+20dup Multiple submitters Imerslund-Grasbeck syndrome
c.208-10T>C Multiple submitters Imerslund-Grasbeck syndrome type 2
c.208-16C>T Multiple submitters Imerslund-Grasbeck syndrome
c.844-3C>T Multiple submitters Imerslund-Grasbeck syndrome type 2
p.Ala303= Multiple submitters Imerslund-Grasbeck syndrome
p.Asp108= Multiple submitters Imerslund-Grasbeck syndrome
p.Asp31= Multiple submitters Imerslund-Grasbeck syndrome
p.Gly121= Multiple submitters Imerslund-Grasbeck syndrome type 2
p.Leu281= Multiple submitters Imerslund-Grasbeck syndrome
p.Met55Ile Multiple submitters Imerslund-Grasbeck syndrome
p.Ser21= Multiple submitters Imerslund-Grasbeck syndrome type 2
p.Thr277Ala Multiple submitters Imerslund-Grasbeck syndrome type 2

Likely benign 365

Showing the top 300 by review status; the full set is in the sitemap.

c.1258-14C>G Multiple submitters Imerslund-Grasbeck syndrome type 2
c.163-13C>A Multiple submitters Imerslund-Grasbeck syndrome type 2
c.207+9G>A Multiple submitters Imerslund-Grasbeck syndrome
c.43+15C>T Multiple submitters Imerslund-Grasbeck syndrome
c.43+286T>C Multiple submitters
p.Ala15= Multiple submitters Imerslund-Grasbeck syndrome type 2
p.Ala362= Multiple submitters Imerslund-Grasbeck syndrome
p.Arg164= Multiple submitters Imerslund-Grasbeck syndrome type 2
p.Arg323= Multiple submitters Imerslund-Grasbeck syndrome type 2
p.Arg384= Multiple submitters Imerslund-Grasbeck syndrome type 2
p.Arg392= Multiple submitters Imerslund-Grasbeck syndrome type 2
p.Arg393= Multiple submitters Imerslund-Grasbeck syndrome type 2
p.Gly201= Multiple submitters Imerslund-Grasbeck syndrome type 2
p.Leu258Ser Multiple submitters Imerslund-Grasbeck syndrome
p.Leu279= Multiple submitters Imerslund-Grasbeck syndrome
p.Pro115= Multiple submitters Imerslund-Grasbeck syndrome type 2
p.Pro245= Multiple submitters Imerslund-Grasbeck syndrome type 2
p.Val66Ile Multiple submitters Inborn genetic diseases
c.1006+12_1006+35dup Single submitter Imerslund-Grasbeck syndrome
c.1006+12C>G Single submitter Imerslund-Grasbeck syndrome
c.1006+13G>A Single submitter Imerslund-Grasbeck syndrome
c.1006+14C>T Single submitter Imerslund-Grasbeck syndrome
c.1006+18_1006+27del Single submitter Imerslund-Grasbeck syndrome
c.1006+23_1006+36del Single submitter Imerslund-Grasbeck syndrome
c.1006+23G>T Single submitter Imerslund-Grasbeck syndrome
c.1006+27C>T Single submitter Imerslund-Grasbeck syndrome
c.1006+28G>T Single submitter Imerslund-Grasbeck syndrome
c.1006+33G>A Single submitter Imerslund-Grasbeck syndrome
c.1006+33G>T Single submitter Imerslund-Grasbeck syndrome
c.1006+36_1007-34dup Single submitter Imerslund-Grasbeck syndrome
c.1006+8C>A Single submitter Imerslund-Grasbeck syndrome
c.1006+8C>T Single submitter Imerslund-Grasbeck syndrome
c.1006+9G>A Single submitter Imerslund-Grasbeck syndrome
c.1007-11C>G Single submitter Imerslund-Grasbeck syndrome
c.1007-11C>T Single submitter Imerslund-Grasbeck syndrome
c.1007-13C>T Single submitter Imerslund-Grasbeck syndrome
c.1007-14C>T Single submitter Imerslund-Grasbeck syndrome
c.1007-15G>A Single submitter Imerslund-Grasbeck syndrome
c.1007-16G>A Single submitter Imerslund-Grasbeck syndrome
c.1007-30G>C Single submitter Imerslund-Grasbeck syndrome
c.1007-30G>T Single submitter Imerslund-Grasbeck syndrome
c.1007-31_1007-30insCC Single submitter Imerslund-Grasbeck syndrome
c.1007-31G>C Single submitter Imerslund-Grasbeck syndrome
c.1007-32C>T Single submitter Imerslund-Grasbeck syndrome
c.1007-33G>T Single submitter Imerslund-Grasbeck syndrome
c.1007-34del Single submitter Imerslund-Grasbeck syndrome
c.1007-38_1007-34dup Single submitter Imerslund-Grasbeck syndrome
c.1007-4G>A Single submitter Imerslund-Grasbeck syndrome
c.1007-7G>A Single submitter Imerslund-Grasbeck syndrome
c.1007-8C>T Single submitter Imerslund-Grasbeck syndrome
c.1007-9C>T Single submitter Imerslund-Grasbeck syndrome
c.1169+10G>A Single submitter Imerslund-Grasbeck syndrome
c.1169+14G>A Single submitter Imerslund-Grasbeck syndrome
c.1169+16G>T Single submitter Imerslund-Grasbeck syndrome
c.1169+19C>T Single submitter Imerslund-Grasbeck syndrome
c.1169+20G>C Single submitter Imerslund-Grasbeck syndrome
c.1170-10A>G Single submitter Imerslund-Grasbeck syndrome
c.1170-12C>T Single submitter Imerslund-Grasbeck syndrome
c.1170-14C>T Single submitter Imerslund-Grasbeck syndrome
c.1170-16C>T Single submitter Imerslund-Grasbeck syndrome
c.1170-17C>T Single submitter Imerslund-Grasbeck syndrome
c.1170-5C>T Single submitter Imerslund-Grasbeck syndrome
c.1170-7C>A Single submitter Imerslund-Grasbeck syndrome
c.1170-7C>T Single submitter Imerslund-Grasbeck syndrome
c.1170-8G>A Single submitter Imerslund-Grasbeck syndrome
c.1170-8G>C Single submitter Imerslund-Grasbeck syndrome
c.1170-9C>T Single submitter Imerslund-Grasbeck syndrome
c.1257+10C>A Single submitter Imerslund-Grasbeck syndrome
c.1257+15G>A Single submitter Imerslund-Grasbeck syndrome
c.1257+16G>A Single submitter Imerslund-Grasbeck syndrome
c.1257+16G>C Single submitter Imerslund-Grasbeck syndrome
c.1257+17G>A Single submitter Imerslund-Grasbeck syndrome
c.1257+18G>A Single submitter Imerslund-Grasbeck syndrome
c.1257+19G>A Single submitter Imerslund-Grasbeck syndrome
c.1257+20G>A Single submitter Imerslund-Grasbeck syndrome
c.1257+20G>C Single submitter Imerslund-Grasbeck syndrome
c.1257+20G>T Single submitter Imerslund-Grasbeck syndrome
c.1257+7G>T Single submitter Imerslund-Grasbeck syndrome
c.1258-14C>T Single submitter Imerslund-Grasbeck syndrome
c.1258-15C>A Single submitter Imerslund-Grasbeck syndrome
c.1258-15C>T Single submitter Imerslund-Grasbeck syndrome
c.1258-4G>C Single submitter Imerslund-Grasbeck syndrome
c.1258-5C>T Single submitter Imerslund-Grasbeck syndrome
c.1258-8C>A Single submitter Imerslund-Grasbeck syndrome
c.1258-8C>T Single submitter Imerslund-Grasbeck syndrome
c.1258-9A>C Single submitter Imerslund-Grasbeck syndrome
c.162+11G>A Single submitter Imerslund-Grasbeck syndrome
c.162+12C>G Single submitter Imerslund-Grasbeck syndrome
c.162+12C>T Single submitter Imerslund-Grasbeck syndrome
c.162+13G>A Single submitter Imerslund-Grasbeck syndrome
c.162+15C>T Single submitter Imerslund-Grasbeck syndrome
c.162+19G>A Single submitter Imerslund-Grasbeck syndrome
c.162+8G>A Single submitter Imerslund-Grasbeck syndrome
c.163-16C>T Single submitter Imerslund-Grasbeck syndrome
c.163-18G>C Single submitter Imerslund-Grasbeck syndrome
c.163-20G>A Single submitter Imerslund-Grasbeck syndrome
c.163-7C>T Single submitter Imerslund-Grasbeck syndrome
c.207+11G>A Single submitter Imerslund-Grasbeck syndrome
c.207+11G>C Single submitter Imerslund-Grasbeck syndrome
c.207+12C>A Single submitter Imerslund-Grasbeck syndrome
c.207+13T>C Single submitter Imerslund-Grasbeck syndrome
c.207+14G>C Single submitter Imerslund-Grasbeck syndrome
c.207+14G>T Single submitter Imerslund-Grasbeck syndrome
c.207+157G>T Single submitter
c.207+17A>C Single submitter Imerslund-Grasbeck syndrome
c.207+8C>T Single submitter Imerslund-Grasbeck syndrome
c.208-14C>T Single submitter Imerslund-Grasbeck syndrome
c.208-15C>G Single submitter Imerslund-Grasbeck syndrome
c.208-17G>T Single submitter Imerslund-Grasbeck syndrome
c.208-18dup Single submitter Imerslund-Grasbeck syndrome
c.208-19C>A Single submitter Imerslund-Grasbeck syndrome
c.208-20T>C Single submitter Imerslund-Grasbeck syndrome
c.295+11C>T Single submitter Imerslund-Grasbeck syndrome
c.295+15C>T Single submitter Imerslund-Grasbeck syndrome
c.295+17G>A Single submitter Imerslund-Grasbeck syndrome
c.295+18G>T Single submitter Imerslund-Grasbeck syndrome
c.295+20G>A Single submitter Imerslund-Grasbeck syndrome
c.295+7C>G Single submitter Imerslund-Grasbeck syndrome
c.295+7C>T Single submitter Imerslund-Grasbeck syndrome
c.295+8G>A Single submitter Imerslund-Grasbeck syndrome
c.295+9G>A Single submitter Imerslund-Grasbeck syndrome
c.296-10T>C Single submitter Imerslund-Grasbeck syndrome
c.296-11C>T Single submitter Imerslund-Grasbeck syndrome
c.296-16A>T Single submitter Imerslund-Grasbeck syndrome
c.296-5C>A Single submitter Imerslund-Grasbeck syndrome
c.296-6del Single submitter Imerslund-Grasbeck syndrome
c.296-8C>T Single submitter Imerslund-Grasbeck syndrome
c.43+10G>A Single submitter Imerslund-Grasbeck syndrome
c.43+11A>G Single submitter Imerslund-Grasbeck syndrome
c.43+16A>G Single submitter Imerslund-Grasbeck syndrome
c.43+17_43+37del Single submitter Imerslund-Grasbeck syndrome
c.43+17C>G Single submitter Imerslund-Grasbeck syndrome
c.43+17C>T Single submitter Imerslund-Grasbeck syndrome
c.43+18C>T Single submitter Imerslund-Grasbeck syndrome
c.43+7C>T Single submitter Imerslund-Grasbeck syndrome
c.43+8G>A Single submitter Imerslund-Grasbeck syndrome
c.43+9G>A Single submitter Imerslund-Grasbeck syndrome
c.44-15T>C Single submitter Imerslund-Grasbeck syndrome
c.44-20C>T Single submitter Imerslund-Grasbeck syndrome
c.44-4C>T Single submitter Imerslund-Grasbeck syndrome
c.44-6C>T Single submitter Imerslund-Grasbeck syndrome
c.44-9C>G Single submitter Imerslund-Grasbeck syndrome
c.513+14G>A Single submitter Imerslund-Grasbeck syndrome
c.513+16A>C Single submitter Imerslund-Grasbeck syndrome
c.513+18G>A Single submitter Imerslund-Grasbeck syndrome
c.513+19del Single submitter Imerslund-Grasbeck syndrome
c.513+8C>G Single submitter Imerslund-Grasbeck syndrome
c.513+8C>T Single submitter Imerslund-Grasbeck syndrome
c.514-15C>A Single submitter Imerslund-Grasbeck syndrome
c.514-15C>T Single submitter Imerslund-Grasbeck syndrome
c.514-19G>A Single submitter Imerslund-Grasbeck syndrome
c.514-4G>C Single submitter Imerslund-Grasbeck syndrome
c.514-4G>T Single submitter Imerslund-Grasbeck syndrome
c.514-7C>T Single submitter Imerslund-Grasbeck syndrome
c.651+10G>A Single submitter Imerslund-Grasbeck syndrome
c.651+11C>A Single submitter Imerslund-Grasbeck syndrome
c.651+12C>A Single submitter Imerslund-Grasbeck syndrome
c.651+13G>T Single submitter Imerslund-Grasbeck syndrome
c.651+15A>C Single submitter Imerslund-Grasbeck syndrome
c.651+16G>T Single submitter Imerslund-Grasbeck syndrome
c.651+9G>A Single submitter Imerslund-Grasbeck syndrome
c.652-10C>T Single submitter Imerslund-Grasbeck syndrome
c.652-12C>T Single submitter Imerslund-Grasbeck syndrome
c.652-14G>A Single submitter Imerslund-Grasbeck syndrome
c.652-14G>T Single submitter Imerslund-Grasbeck syndrome
c.652-15C>A Single submitter
c.652-4C>T Single submitter Imerslund-Grasbeck syndrome
c.652-8C>G Single submitter Imerslund-Grasbeck syndrome
c.760+10C>T Single submitter Imerslund-Grasbeck syndrome
c.760+12C>T Single submitter Imerslund-Grasbeck syndrome
c.760+15C>T Single submitter Imerslund-Grasbeck syndrome
c.760+16G>A Single submitter Imerslund-Grasbeck syndrome
c.760+18G>A Single submitter Imerslund-Grasbeck syndrome
c.760+8C>T Single submitter Imerslund-Grasbeck syndrome
c.760+9C>T Single submitter Imerslund-Grasbeck syndrome
c.761-14C>T Single submitter Imerslund-Grasbeck syndrome
c.761-20C>A Single submitter Imerslund-Grasbeck syndrome
c.761-20C>T Single submitter Imerslund-Grasbeck syndrome
c.761-4G>A Single submitter Imerslund-Grasbeck syndrome
c.761-8C>G Single submitter Imerslund-Grasbeck syndrome
c.761-9C>A Single submitter Imerslund-Grasbeck syndrome
c.843+10C>A Single submitter Imerslund-Grasbeck syndrome
c.843+11del Single submitter Imerslund-Grasbeck syndrome
c.843+13C>G Single submitter Imerslund-Grasbeck syndrome
c.843+13C>T Single submitter Imerslund-Grasbeck syndrome
c.843+14G>A Single submitter Imerslund-Grasbeck syndrome
c.843+15C>T Single submitter Imerslund-Grasbeck syndrome
c.843+20A>G Single submitter Imerslund-Grasbeck syndrome
c.843+7G>A Single submitter Imerslund-Grasbeck syndrome
c.843+7G>C Single submitter Imerslund-Grasbeck syndrome
c.844-11C>T Single submitter Imerslund-Grasbeck syndrome
c.844-12C>T Single submitter Imerslund-Grasbeck syndrome
c.844-13T>A Single submitter Imerslund-Grasbeck syndrome
c.844-15C>T Single submitter Imerslund-Grasbeck syndrome
c.844-17C>G Single submitter Imerslund-Grasbeck syndrome
c.844-17C>T Single submitter Imerslund-Grasbeck syndrome
c.844-18C>A Single submitter Imerslund-Grasbeck syndrome
c.844-4C>G Single submitter Imerslund-Grasbeck syndrome
p.450EA[3] Single submitter Imerslund-Grasbeck syndrome
p.Ala102= Single submitter Imerslund-Grasbeck syndrome
p.Ala132= Single submitter Imerslund-Grasbeck syndrome
p.Ala168= Single submitter Imerslund-Grasbeck syndrome
p.Ala187= Single submitter Imerslund-Grasbeck syndrome
p.Ala19= Single submitter Imerslund-Grasbeck syndrome
p.Ala197= Single submitter Imerslund-Grasbeck syndrome
p.Ala206= Single submitter Imerslund-Grasbeck syndrome
p.Ala224= Single submitter Imerslund-Grasbeck syndrome
p.Ala237= Single submitter Imerslund-Grasbeck syndrome
p.Ala272= Single submitter Imerslund-Grasbeck syndrome
p.Ala290= Single submitter Imerslund-Grasbeck syndrome
p.Ala325= Single submitter Imerslund-Grasbeck syndrome
p.Ala330= Single submitter Imerslund-Grasbeck syndrome
p.Ala338= Single submitter Imerslund-Grasbeck syndrome
p.Ala344= Single submitter Imerslund-Grasbeck syndrome
p.Ala359= Single submitter Imerslund-Grasbeck syndrome
p.Ala366= Single submitter Imerslund-Grasbeck syndrome
p.Ala368= Single submitter Imerslund-Grasbeck syndrome
p.Ala379= Single submitter Imerslund-Grasbeck syndrome
p.Ala386= Single submitter Imerslund-Grasbeck syndrome
p.Ala397= Single submitter Imerslund-Grasbeck syndrome
p.Ala398= Single submitter Imerslund-Grasbeck syndrome
p.Ala400= Single submitter Imerslund-Grasbeck syndrome
p.Ala402= Single submitter Imerslund-Grasbeck syndrome
p.Ala431= Single submitter Imerslund-Grasbeck syndrome
p.Ala432= Single submitter Imerslund-Grasbeck syndrome
p.Ala433= Single submitter Imerslund-Grasbeck syndrome
p.Ala447= Single submitter Imerslund-Grasbeck syndrome
p.Ala449= Single submitter Imerslund-Grasbeck syndrome
p.Ala453= Single submitter Imerslund-Grasbeck syndrome
p.Ala47= Single submitter Imerslund-Grasbeck syndrome
p.Ala52= Single submitter Imerslund-Grasbeck syndrome
p.Ala65= Single submitter Imerslund-Grasbeck syndrome
p.Ala80= Single submitter Imerslund-Grasbeck syndrome
p.Ala83= Single submitter Imerslund-Grasbeck syndrome
p.Arg119= Single submitter Imerslund-Grasbeck syndrome
p.Arg134= Single submitter Imerslund-Grasbeck syndrome
p.Arg138= Single submitter Imerslund-Grasbeck syndrome
p.Arg175= Single submitter Imerslund-Grasbeck syndrome
p.Arg186= Single submitter Imerslund-Grasbeck syndrome
p.Arg244= Single submitter Imerslund-Grasbeck syndrome
p.Arg296= Single submitter Imerslund-Grasbeck syndrome
p.Arg347= Single submitter Imerslund-Grasbeck syndrome
p.Arg407= Single submitter Imerslund-Grasbeck syndrome
p.Arg424= Single submitter Imerslund-Grasbeck syndrome
p.Asn27= Single submitter Imerslund-Grasbeck syndrome
p.Asn35= Single submitter Imerslund-Grasbeck syndrome
p.Asn443= Single submitter Imerslund-Grasbeck syndrome
p.Asp141= Single submitter Imerslund-Grasbeck syndrome
p.Asp251= Single submitter Imerslund-Grasbeck syndrome
p.Asp266= Single submitter Imerslund-Grasbeck syndrome
p.Cys211= Single submitter Imerslund-Grasbeck syndrome
p.Cys213= Single submitter Imerslund-Grasbeck syndrome
p.Cys234= Single submitter Imerslund-Grasbeck syndrome
p.Cys43= Single submitter Imerslund-Grasbeck syndrome
p.Gln228= Single submitter Imerslund-Grasbeck syndrome
p.Glu306= Single submitter Imerslund-Grasbeck syndrome
p.Glu334= Single submitter Imerslund-Grasbeck syndrome
p.Glu337= Single submitter Imerslund-Grasbeck syndrome
p.Glu343= Single submitter Imerslund-Grasbeck syndrome
p.Glu395= Single submitter Imerslund-Grasbeck syndrome
p.Glu450= Single submitter Imerslund-Grasbeck syndrome
p.Glu452= Single submitter Imerslund-Grasbeck syndrome
p.Gly126= Single submitter Imerslund-Grasbeck syndrome
p.Gly153= Single submitter Imerslund-Grasbeck syndrome
p.Gly170= Single submitter Imerslund-Grasbeck syndrome
p.Gly194= Single submitter Imerslund-Grasbeck syndrome
p.Gly210= Single submitter Imerslund-Grasbeck syndrome
p.Gly214= Single submitter Imerslund-Grasbeck syndrome
p.Gly231= Single submitter Imerslund-Grasbeck syndrome
p.Gly254= Single submitter Imerslund-Grasbeck syndrome
p.Gly315= Single submitter Imerslund-Grasbeck syndrome
p.Gly319= Single submitter Imerslund-Grasbeck syndrome
p.Gly336= Single submitter Imerslund-Grasbeck syndrome
p.Gly340= Single submitter Imerslund-Grasbeck syndrome
p.Gly355= Single submitter Imerslund-Grasbeck syndrome
p.Gly363= Single submitter Imerslund-Grasbeck syndrome
p.Gly364= Single submitter Imerslund-Grasbeck syndrome
p.Gly405= Single submitter Imerslund-Grasbeck syndrome
p.Gly448= Single submitter Imerslund-Grasbeck syndrome
p.Gly448Arg Single submitter Inborn genetic diseases
p.Gly45= Single submitter Imerslund-Grasbeck syndrome
p.Gly82= Single submitter Imerslund-Grasbeck syndrome
p.Gly86= Single submitter Imerslund-Grasbeck syndrome
p.His193= Single submitter Imerslund-Grasbeck syndrome
p.His261= Single submitter Imerslund-Grasbeck syndrome
p.His285= Single submitter Imerslund-Grasbeck syndrome
p.His394= Single submitter Imerslund-Grasbeck syndrome
p.His438= Single submitter Imerslund-Grasbeck syndrome
p.His64= Single submitter Imerslund-Grasbeck syndrome
p.Ile307= Single submitter Imerslund-Grasbeck syndrome
p.Leu117= Single submitter Imerslund-Grasbeck syndrome
p.Leu127= Single submitter Imerslund-Grasbeck syndrome
p.Leu154= Single submitter Imerslund-Grasbeck syndrome
p.Leu16= Single submitter Imerslund-Grasbeck syndrome
p.Leu226= Single submitter Imerslund-Grasbeck syndrome
p.Leu230= Single submitter Imerslund-Grasbeck syndrome
p.Leu252= Single submitter Imerslund-Grasbeck syndrome
p.Leu259= Single submitter Imerslund-Grasbeck syndrome
p.Leu267= Single submitter Imerslund-Grasbeck syndrome
p.Leu287= Single submitter Imerslund-Grasbeck syndrome

Uncertain significance 178

c.296-3C>T Multiple submitters Imerslund-Grasbeck syndrome type 2
c.44-7_44-5del Multiple submitters Imerslund-Grasbeck syndrome type 2
c.651+3G>T Multiple submitters Imerslund-Grasbeck syndrome type 2
p.Ala238Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala372_Leu374dup Multiple submitters Imerslund-Grasbeck syndrome type 2
p.Ala400Val Multiple submitters Imerslund-Grasbeck syndrome ⚠
p.Ala433Val Multiple submitters Imerslund-Grasbeck syndrome type 2 ⚠
p.Ala44Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala47Val Multiple submitters Imerslund-Grasbeck syndrome ⚠
p.Ala98= Multiple submitters Imerslund-Grasbeck syndrome type 2
p.Arg119Leu Multiple submitters Imerslund-Grasbeck syndrome type 2 ⚠
p.Arg134Gly Multiple submitters Imerslund-Grasbeck syndrome ⚠
p.Arg244Trp Multiple submitters Imerslund-Grasbeck syndrome type 2 ⚠
p.Arg269Trp Multiple submitters Imerslund-Grasbeck syndrome type 2 ⚠
p.Arg271Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg40Gln Multiple submitters Imerslund-Grasbeck syndrome type 2 ⚠
p.Arg424Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp114Asn Multiple submitters Imerslund-Grasbeck syndrome type 2 ⚠
p.Asp122Gly Multiple submitters Imerslund-Grasbeck syndrome type 2 ⚠
p.Asp176Asn Multiple submitters Imerslund-Grasbeck syndrome type 2 ⚠
p.Asp178Asn Multiple submitters Imerslund-Grasbeck syndrome type 2 ⚠
p.Gln288His Multiple submitters Inborn genetic diseases ⚠
p.Glu395Lys Multiple submitters Imerslund-Grasbeck syndrome type 2 ⚠
p.Glu450Gly Multiple submitters Imerslund-Grasbeck syndrome type 2 ⚠
p.Gly280Ala Multiple submitters Imerslund-Grasbeck syndrome type 2 ⚠
p.Gly97Asp Multiple submitters Imerslund-Grasbeck syndrome ⚠
p.His352Gln Multiple submitters Imerslund-Grasbeck syndrome ⚠
p.Leu382Pro Multiple submitters Imerslund-Grasbeck syndrome type 2 ⚠
p.Leu404Phe Multiple submitters Imerslund-Grasbeck syndrome type 2 ⚠
p.Met69Thr Multiple submitters Imerslund-Grasbeck syndrome type 2 ⚠
p.Phe150Leu Multiple submitters Imerslund-Grasbeck syndrome type 2 ⚠
p.Phe50Ser Multiple submitters Imerslund-Grasbeck syndrome type 2 ⚠
p.Pro444Ser Multiple submitters Inborn genetic diseases ⚠
p.Ser147Thr Multiple submitters Imerslund-Grasbeck syndrome type 2 ⚠
p.Ser167Leu Multiple submitters Imerslund-Grasbeck syndrome ⚠
p.Ser21Phe Multiple submitters Imerslund-Grasbeck syndrome type 2 ⚠
p.Ser37Asn Multiple submitters Imerslund-Grasbeck syndrome ⚠
p.Ser437Asn Multiple submitters Inborn genetic diseases ⚠
p.Trp36Cys Multiple submitters Imerslund-Grasbeck syndrome type 2 ⚠
p.Val161Leu Multiple submitters Imerslund-Grasbeck syndrome type 2 ⚠
p.Val310Met Multiple submitters Imerslund-Grasbeck syndrome type 2 ⚠
p.Val375Leu Multiple submitters Imerslund-Grasbeck syndrome type 2 ⚠
p.Val378_Ala379insLeuLeuVal Multiple submitters Inborn genetic diseases
p.Val3Leu Multiple submitters Imerslund-Grasbeck syndrome type 2 ⚠
p.Val442fs Multiple submitters Imerslund-Grasbeck syndrome type 2
p.Val442Ile Multiple submitters Inborn genetic diseases ⚠
p.Val66Ala Multiple submitters Imerslund-Grasbeck syndrome ⚠
p.Val90Met Multiple submitters Inborn genetic diseases ⚠
c.1006+6C>T Single submitter Imerslund-Grasbeck syndrome
c.1007-3C>T Single submitter Imerslund-Grasbeck syndrome
c.1169+17_1169+36del Single submitter Imerslund-Grasbeck syndrome
c.163-21T>C Single submitter Imerslund-Grasbeck syndrome type 2
c.163-3C>T Single submitter Imerslund-Grasbeck syndrome
c.296-9C>G Single submitter Imerslund-Grasbeck syndrome
c.652-20A>G Single submitter Imerslund-Grasbeck syndrome
c.761-15dup Single submitter Imerslund-Grasbeck syndrome type 2
c.844-3dup Single submitter Imerslund-Grasbeck syndrome type 2
p.Ala102Asp Single submitter Inborn genetic diseases ⚠
p.Ala124Val Single submitter Imerslund-Grasbeck syndrome type 2 ⚠
p.Ala132Val Single submitter Imerslund-Grasbeck syndrome ⚠
p.Ala158Val Single submitter Imerslund-Grasbeck syndrome type 2 ⚠
p.Ala15Ser Single submitter Imerslund-Grasbeck syndrome ⚠
p.Ala197Val Single submitter Inborn genetic diseases ⚠
p.Ala19Val Single submitter Imerslund-Grasbeck syndrome ⚠
p.Ala216Thr Single submitter Inborn genetic diseases ⚠
p.Ala224Glu Single submitter Inborn genetic diseases ⚠
p.Ala238Pro Single submitter Inborn genetic diseases ⚠
p.Ala264Thr Single submitter Imerslund-Grasbeck syndrome ⚠
p.Ala325Thr Single submitter Inborn genetic diseases ⚠
p.Ala330Thr Single submitter Inborn genetic diseases ⚠
p.Ala333Gly Single submitter Imerslund-Grasbeck syndrome ⚠
p.Ala358Gly Single submitter Inborn genetic diseases ⚠
p.Ala359Gly Single submitter Inborn genetic diseases ⚠
p.Ala367Thr Single submitter Inborn genetic diseases ⚠
p.Ala372Val Single submitter Inborn genetic diseases ⚠
p.Ala398Ser Single submitter Imerslund-Grasbeck syndrome ⚠
p.Ala432Val Single submitter Imerslund-Grasbeck syndrome type 2 ⚠
p.Ala451Val Single submitter Inborn genetic diseases ⚠
p.Ala453_Ter454insGluAla Single submitter Imerslund-Grasbeck syndrome type 2
p.Ala52Gly Single submitter Imerslund-Grasbeck syndrome type 2 ⚠
p.Ala98Pro Single submitter Inborn genetic diseases ⚠
p.Ala98Val Single submitter Inborn genetic diseases ⚠
p.Arg109Cys Single submitter Imerslund-Grasbeck syndrome type 2 ⚠
p.Arg138Ser Single submitter Inborn genetic diseases ⚠
p.Arg164Gln Single submitter Imerslund-Grasbeck syndrome
p.Arg164His Single submitter Inborn genetic diseases ⚠
p.Arg171Pro Single submitter Inborn genetic diseases ⚠
p.Arg186Pro Single submitter Imerslund-Grasbeck syndrome type 2 ⚠
p.Arg186Ser Single submitter Imerslund-Grasbeck syndrome type 2 ⚠
p.Arg269Leu Single submitter Imerslund-Grasbeck syndrome ⚠
p.Arg299Trp Single submitter Imerslund-Grasbeck syndrome type 2 ⚠
p.Arg323Leu Single submitter Inborn genetic diseases ⚠
p.Arg323Pro Single submitter Inborn genetic diseases ⚠
p.Arg323Trp Single submitter Imerslund-Grasbeck syndrome ⚠
p.Arg384Cys Single submitter Imerslund-Grasbeck syndrome type 2 ⚠
p.Arg385Cys Single submitter Imerslund-Grasbeck syndrome type 2 ⚠
p.Arg407Cys Single submitter Imerslund-Grasbeck syndrome ⚠
p.Asn314Tyr Single submitter Imerslund-Grasbeck syndrome
p.Asn35Lys Single submitter Inborn genetic diseases ⚠
p.Asn39Ile Single submitter Inborn genetic diseases ⚠
p.Asn408Asp Single submitter Imerslund-Grasbeck syndrome type 2 ⚠
p.Asp106Asn Single submitter Imerslund-Grasbeck syndrome ⚠
p.Asp31Asn Single submitter Imerslund-Grasbeck syndrome type 2 ⚠
p.Asp31Glu Single submitter Imerslund-Grasbeck syndrome ⚠
p.Asp331Glu Single submitter Imerslund-Grasbeck syndrome type 2 ⚠
p.Asp412Asn Single submitter Inborn genetic diseases ⚠
p.Cys211Arg Single submitter Inborn genetic diseases ⚠
p.Cys223_Ala224insIleCys Single submitter Imerslund-Grasbeck syndrome type 2
p.Cys250Trp Single submitter Inborn genetic diseases ⚠
p.Cys43Ser Single submitter Imerslund-Grasbeck syndrome ⚠
p.Gln228Glu Single submitter Imerslund-Grasbeck syndrome ⚠
p.Glu177Asp Single submitter Imerslund-Grasbeck syndrome type 2 ⚠
p.Glu313Gly Single submitter Imerslund-Grasbeck syndrome type 2 ⚠
p.Glu317fs Single submitter Imerslund-Grasbeck syndrome
p.Glu317Gln Single submitter Imerslund-Grasbeck syndrome type 2 ⚠
p.Glu343Lys Single submitter Inborn genetic diseases ⚠
p.Glu450fs Single submitter Imerslund-Grasbeck syndrome type 2
p.Glu62Lys Single submitter Imerslund-Grasbeck syndrome type 2 ⚠
p.Gly155Arg Single submitter Imerslund-Grasbeck syndrome ⚠
p.Gly155Asp Single submitter Inborn genetic diseases ⚠
p.Gly170Asp Single submitter Inborn genetic diseases ⚠
p.Gly201Asp Single submitter Inborn genetic diseases ⚠
p.Gly232Val Single submitter Inborn genetic diseases ⚠
p.Gly2Asp Single submitter Imerslund-Grasbeck syndrome ⚠
p.Gly2Ser Single submitter Imerslund-Grasbeck syndrome type 2 ⚠
p.Gly340Asp Single submitter Inborn genetic diseases ⚠
p.Gly355Asp Single submitter Imerslund-Grasbeck syndrome ⚠
p.Gly360Glu Single submitter Imerslund-Grasbeck syndrome type 2 ⚠
p.Gly45Ser Single submitter Inborn genetic diseases ⚠
p.Gly46del Single submitter Imerslund-Grasbeck syndrome type 2
p.Gly46Ser Single submitter Imerslund-Grasbeck syndrome type 2 ⚠
p.Gly84Arg Single submitter Imerslund-Grasbeck syndrome ⚠
p.His113Gln Single submitter Inborn genetic diseases ⚠
p.His285Leu Single submitter Imerslund-Grasbeck syndrome ⚠
p.Leu179Met Single submitter Imerslund-Grasbeck syndrome type 2 ⚠
p.Leu179Pro Single submitter Inborn genetic diseases ⚠
p.Leu227His Single submitter Imerslund-Grasbeck syndrome type 2 ⚠
p.Leu252Phe Single submitter Imerslund-Grasbeck syndrome ⚠
p.Leu267Gln Single submitter Imerslund-Grasbeck syndrome type 2 ⚠
p.Leu275Val Single submitter Imerslund-Grasbeck syndrome type 2 ⚠
p.Leu279Met Single submitter Imerslund-Grasbeck syndrome type 2 ⚠
p.Leu281Pro Single submitter Inborn genetic diseases ⚠
p.Leu324Pro Single submitter Imerslund-Grasbeck syndrome type 2 ⚠
p.Leu339Phe Single submitter Inborn genetic diseases ⚠
p.Leu371Pro Single submitter Inborn genetic diseases ⚠
p.Leu383Pro Single submitter Imerslund-Grasbeck syndrome ⚠
p.Leu389Ile Single submitter Imerslund-Grasbeck syndrome ⚠
p.Leu419= Single submitter Imerslund-Grasbeck syndrome
p.Leu427Val Single submitter Inborn genetic diseases ⚠
p.Leu445Val Single submitter Imerslund-Grasbeck syndrome type 2 ⚠
p.Lys430Gln Single submitter Imerslund-Grasbeck syndrome ⚠
p.Met346Leu Single submitter Imerslund-Grasbeck syndrome ⚠
p.Met69Ile Single submitter Imerslund-Grasbeck syndrome type 2 ⚠
p.Pro156Arg Single submitter Inborn genetic diseases ⚠
p.Pro229Thr Single submitter Imerslund-Grasbeck syndrome type 2 ⚠
p.Pro235Ala Single submitter Inborn genetic diseases ⚠
p.Pro381Leu Single submitter Imerslund-Grasbeck syndrome type 2 ⚠
p.Pro381Ser Single submitter Imerslund-Grasbeck syndrome ⚠
p.Pro42Leu Single submitter Imerslund-Grasbeck syndrome type 2 ⚠
p.Pro72Leu Single submitter Imerslund-Grasbeck syndrome type 2 ⚠
p.Ser185Phe Single submitter Imerslund-Grasbeck syndrome type 2 ⚠
p.Ser292fs Single submitter Imerslund-Grasbeck syndrome
p.Ser297Leu Single submitter Imerslund-Grasbeck syndrome type 2 ⚠
p.Ser439Ile Single submitter Inborn genetic diseases ⚠
p.Thr305Met Single submitter Imerslund-Grasbeck syndrome ⚠
p.Thr414Ser Single submitter Inborn genetic diseases ⚠
p.Trp112Cys Single submitter Inborn genetic diseases ⚠
p.Val130= Single submitter Imerslund-Grasbeck syndrome type 2
p.Val142Ile Single submitter Inborn genetic diseases ⚠
p.Val152Leu Single submitter Inborn genetic diseases ⚠
p.Val152Met Single submitter Imerslund-Grasbeck syndrome ⚠
p.Val200Met Single submitter Inborn genetic diseases ⚠
p.Val212Phe Single submitter Imerslund-Grasbeck syndrome type 2 ⚠
p.Val25Ala Single submitter Imerslund-Grasbeck syndrome type 2 ⚠
p.Val25Asp Single submitter Inborn genetic diseases ⚠
p.Val378Leu Single submitter Inborn genetic diseases ⚠
p.Val78Ala Single submitter Inborn genetic diseases ⚠
p.Ter454Arg No assertion criteria